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Haematologica. 2009 Sep;94(9):1293-6. doi: 10.3324/haematol.2009.006270.

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Author information

1
Laboratorio di Immunogenetica e Biologia dei Trapianti, Fondazione IME, Policlinico Tor Vergata, Viale Oxford 81, Rome, Italy. m.andreani@fondazioneime.org

Abstract

Hepcidin is a 25-amino acid peptide, derived from cleavage of an 84 amino acid pro-peptide produced predominantly by hepatocytes. This molecule, encoded by the hepcidin antimicrobial peptide (HAMP) gene shows structural and functional properties consistent with a role in innate immunity. Moreover, as demonstrated in mice and humans, hepcidin is a major regulator of iron metabolism, and acts by binding to ferroportin and controlling its concentration and trafficking. In this study we investigated the influence that mutations in HAMP and/or hemocromatosis (HFE) genes might exert on iron metabolism in a group of poly-transfused thalassemic patients in preparation for bone marrow transplantation. Our results showed that the presence of the c.-582 A>G polymorphism (rs10421768) placed in HAMP promoter (HAMP-P) might play a role in iron metabolism, perhaps varying the transcriptional activation that occurs through E-boxes located within the promoter.

PMID:
19734422
PMCID:
PMC2738723
DOI:
10.3324/haematol.2009.006270
[Indexed for MEDLINE]
Free PMC Article

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